ClinVar Miner

Submissions for variant NM_000039.3(APOA1):c.726G>C (p.Leu242=)

gnomAD frequency: 0.00013  dbSNP: rs567268961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002107518 SCV002391048 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382356 SCV002672736 likely benign Cardiovascular phenotype 2020-02-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002499960 SCV002809650 likely benign Familial visceral amyloidosis, Ostertag type; Hypoalphalipoproteinemia, primary, 2; Hypoalphalipoproteinemia, primary, 2, intermediate 2022-04-18 criteria provided, single submitter clinical testing

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